CardioVar: a machine learning framework for pathogenicity prediction of cardiomyopathy genetic variants

<h4>Motivation</h4>CardioVar is a machine learning framework developed to predict the pathogenicity of cardiomyopathy-associated genetic variants, providing a rapid and disease-focused classification score to support variant interpretation in cardiogenetic workflows.<h4>Results</h4>This approach supports variant interpretation within cardiac-related genes and may complement existing pan-disease models within a cardiomyopathy-specific context. In prospective case study settings, CardioVar demonstrated an 85% concordance with conventional tertiary analysis results.<h4>Availability and implementation</h4>https://github.com/nibrasissa/CardioVar.